Pdcd10^tm1.1Kwhi
Targeted Allele Detail

Summary

• Symbol: Pdcd10^tm1.1Kwhi
• Name: programmed cell death 10; targeted mutation 1.1, Kevin Whitehead
• MGI ID: MGI:5052184
• Synonyms: Pdcd10^-
• Gene: Pdcd10 Location: Chr3:75423797-75464159 bp, - strand Genetic Position: Chr3, 33.76 cM, cytoband E3
• Alliance: Pdcd10^tm1.1Kwhi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:173947
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: One loxP site was inserted in intron 3 just 5' to exon 4. A neomycin resistance cassette, a second loxP site and an EGFP construct were inserted 3' to exon 8. Cre mediated excision removed exons 4-8 and the resistance cassette. This resulted in a fusion protein composed of exons 1-3 and EGFP. (J:173947)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Pdcd10^tm1.1Kwhi/Pdcd10^tm1.1Kwhi	involves: C57BL/6
cn2  Disease Model	Pdcd10^tm1Kwhi/Pdcd10^tm1.1Kwhi Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/?	involves: C57BL/6 * CBA

Phenotypes:

Affected Systems	hm1	cn2
show or hide all annotated terms
cardiovascular system		√
abnormal brain vasculature morphology		√
abnormal pericyte morphology		√
embryo	√
embryonic growth arrest	√
immune system		√
CNS inflammation		√
mortality/aging	√	√
postnatal lethality		√
embryonic lethality between somite formation and embryo turning, complete penetrance	√
nervous system		√
abnormal brain vasculature morphology		√
CNS inflammation		√
abnormal astrocyte morphology		√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cn2
cerebral cavernous malformation 3 IDs cerebral cavernous malformation 3       DOID:0060671 ICD10CM:Q28.3 OMIM:603285 ORDO:221061 Close	√

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pdcd10 Mutation: 20 strains or lines available

References

• Original: J:173947 Chan AC, et al., Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice. J Clin Invest. 2011 May 2;121(5):1871-81
• All: 1 reference(s)